Aox4 - SNV Details



 Gene Information 
Gene Name Aox4
Old Gene Names for Aox4 2310003g12rik
Gene Description aldehyde oxidase 4 [Source:MGI Symbol;Acc:MGI:1919122]
MGI phenotype Mice homozygous for a null allele exhibit a slight decrease in prenatal survival and epidermal thickening that is exacerbated by UV treatment.
Uniprot Name
CCDS Name
Gene GO
oxidation-reduction process; catalytic activity; oxidoreductase activity; cytoplasm; metal ion binding; aldehyde oxidase activity; molybdenum ion binding; flavin adenine dinucleotide binding; NAD binding; iron-sulfur cluster binding; 2 iron
2 sulfur cluster binding; oxidoreductase activity
acting on CH-OH group of donors; electron carrier activity; UDP-N-acetylmuramate dehydrogenase activity; iron ion binding
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.DPSM.TH, T.8EFF.SP.OT1.D6.VSVOVA, T.8MEM.LN,TGD.SP,T.4FP3+25+.SP,T.4NVE.PP)
Gnf Expression
LOW(HIGH IN RETINA, UMBLICALCORD. EPIDERMIS TISSUES, TRACHEA)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000038242
Chromosome 1
Coordinate 58,255,552     (Assembly: GRCm38)    
Ref Base A
Var Base T
Zygosity Heterozygous
Read Depth 19
Allele Frequency
A:R0.53
T:V0.47
Amino Acid Change R->S (Arginine -> Serine)
Sample ID IGL02744
Median Base Quality 40
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 35 Other Mutations

 Predictions 
Polyphen Score 0.95
Polyphen Prediction Possibly damaging

 Availability Details 
Availability Cryopreserved